Linked Data
ClinVar Variation Id:
402227
dbSNP Id:
rs1060499783
gnomAD v2:
6-64694355-G-A
gnomAD v3:
6-63984462-G-A
gnomAD v4:
6-63984462-G-A
COSMIC:
COSM4438983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63984462G>A , CM000668.2:g.63984462G>A | GRCh38 |
| NC_000006.11:g.64694355G>A , CM000668.1:g.64694355G>A | GRCh37 |
| NC_000006.10:g.64752314G>A | NCBI36 |
| NG_023443.1:g.1727764C>T | |
| NG_023443.2:g.1727764C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503581.6:c.6976C>T MANE Select | ENSP00000424243.1:p.Arg2326Ter | |
| ENST00000370616.6:c.6976C>T | ENSP00000359650.2:p.Arg2326Ter | |
| ENST00000370618.7:c.6976C>T | ENSP00000359652.4:p.Arg2326Ter | |
| ENST00000370621.7:c.6976C>T | ENSP00000359655.3:p.Arg2326Ter | |
| ENST00000398580.3:c.290C>T | ||
| ENST00000503581.5:c.6976C>T | ENSP00000424243.1:p.Arg2326Ter | |
| NM_001142800.1:c.6976C>T | NP_001136272.1:p.Arg2326Ter | |
| NM_001292009.1:c.6976C>T | NP_001278938.1:p.Arg2326Ter | |
| XR_001744188.1:n.606+16178G>A | ||
| XR_001744189.1:n.129+16178G>A | ||
| XR_001744190.1:n.197+16178G>A | ||
| XR_001744191.1:n.607-1192G>A | ||
| NM_001142800.2:c.6976C>T MANE Select | NP_001136272.1:p.Arg2326Ter | |
| NM_001292009.2:c.6976C>T | NP_001278938.1:p.Arg2326Ter |